Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16632 | 50119;50120;50121 | chr2:178612827;178612826;178612825 | chr2:179477554;179477553;179477552 |
| N2AB | 14991 | 45196;45197;45198 | chr2:178612827;178612826;178612825 | chr2:179477554;179477553;179477552 |
| N2A | 14064 | 42415;42416;42417 | chr2:178612827;178612826;178612825 | chr2:179477554;179477553;179477552 |
| N2B | 7567 | 22924;22925;22926 | chr2:178612827;178612826;178612825 | chr2:179477554;179477553;179477552 |
| Novex-1 | 7692 | 23299;23300;23301 | chr2:178612827;178612826;178612825 | chr2:179477554;179477553;179477552 |
| Novex-2 | 7759 | 23500;23501;23502 | chr2:178612827;178612826;178612825 | chr2:179477554;179477553;179477552 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1385134707  |
-1.132 | 1.0 | D | 0.895 | 0.757 | 0.585715438093 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/E | rs1385134707 |
-1.132 | 1.0 | D | 0.895 | 0.757 | 0.585715438093 | gnomAD-4.0.0 | 1.59415E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43414E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7378 | likely_pathogenic | 0.8516 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.74 | deleterious | D | 0.739552863 | None | None | N |
| G/C | 0.9133 | likely_pathogenic | 0.968 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/D | 0.9093 | likely_pathogenic | 0.9694 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/E | 0.9222 | likely_pathogenic | 0.9789 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.795144486 | None | None | N |
| G/F | 0.9814 | likely_pathogenic | 0.9938 | pathogenic | -1.238 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/H | 0.9722 | likely_pathogenic | 0.9925 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/I | 0.9754 | likely_pathogenic | 0.9943 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| G/K | 0.9442 | likely_pathogenic | 0.9869 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/L | 0.9696 | likely_pathogenic | 0.9891 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/M | 0.9765 | likely_pathogenic | 0.9933 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| G/N | 0.9364 | likely_pathogenic | 0.9754 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/P | 0.9979 | likely_pathogenic | 0.9991 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/Q | 0.9292 | likely_pathogenic | 0.9784 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/R | 0.8813 | likely_pathogenic | 0.9683 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.762162837 | None | None | N |
| G/S | 0.6327 | likely_pathogenic | 0.8106 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/T | 0.896 | likely_pathogenic | 0.9663 | pathogenic | -0.934 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/V | 0.9441 | likely_pathogenic | 0.9847 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.702685526 | None | None | N |
| G/W | 0.9643 | likely_pathogenic | 0.9893 | pathogenic | -1.379 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.797426617 | None | None | N |
| G/Y | 0.9739 | likely_pathogenic | 0.9922 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.